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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA531234600
Gene:
Linked Data
gnomAD v2:
2-16639509-TCTCTCAGCTTCAAAAAG-T
gnomAD v3:
2-16458241-TCTCTCAGCTTCAAAAAG-T
gnomAD v4:
2-16458241-TCTCTCAGCTTCAAAAAG-T
MyVariant Identifiers:
chr2:g.16639510_16639526del (hg19)
chr2:g.16458242_16458258del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458242_16458258del , CM000664.2:g.16458242_16458258del
GRCh38
NC_000002.11:g.16639510_16639526del , CM000664.1:g.16639510_16639526del
GRCh37
NC_000002.10:g.16502991_16503007del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3164_396-3148del
Search 100 bp 5'
Search 100 bp 3'